Arthrogryposis–renal dysfunction–cholestasis syndrome

Medical condition
Arthrogryposis–renal dysfunction–cholestasis syndrome
Other namesARC syndrome[1]
SpecialtyDermatology

Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene.[2] Most of the cases have been survived for infancy. Recently, College of Medical Sciences in Nepal reports a case of ARC syndrome in a girl at the age of more than 18 years.[citation needed]

See also

References

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Arthrogryposis renal dysfunction cholestasis syndrome". www.orpha.net. Retrieved 18 May 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

External links

Classification
D
  • ICD-10: Q89.7
  • OMIM: 208085
  • MeSH: C535382
External resources
  • Orphanet: 2697
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Inherited disorders of trafficking / vesicular transport proteins
Vesicle formation
Lysosome/Melanosome:
COPII:
APC:
Rab
Cytoskeleton
Myosin:
Microtubule:
Kinesin:
Spectrin:
Vesicle fusion
Synaptic vesicle:
Caveolae:
Vacuolar protein sorting:
See also vesicular transport proteins

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